Linked Data
gnomAD v4:
1-215671289-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215671290del , CM000663.2:g.215671290del | GRCh38 |
| NC_000001.10:g.215844632del , CM000663.1:g.215844632del | GRCh37 |
| NC_000001.9:g.213911255del | NCBI36 |
| NG_009497.1:g.757107del | |
| NG_009497.2:g.757159del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.13815del MANE Select | ENSP00000305941.3:p.Tyr4605Ter | |
| ENST00000674083.1:c.13815del | ENSP00000501296.1:p.Tyr4605Ter | |
| ENST00000307340.7:c.13815del | ENSP00000305941.3:p.Tyr4605Ter | |
| NM_206933.2:c.13815del | NP_996816.2:p.Tyr4605Ter | |
| NM_206933.3:c.13815del | NP_996816.2:p.Tyr4605Ter | |
| NM_206933.4:c.13815del MANE Select | NP_996816.3:p.Tyr4605Ter |